Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Microphthalmia, Cataracts, and Iris Abnormalities
go back to main search page
Accession:DOID:9003342 term browser browse the term
Synonyms:primary_id: MESH:C566448;   RDO:0014799


show annotations for term's descendants           Sort by:
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO RGD PMID:20735985 RGD:12880033 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities ClinVar PMID:10932181 PMID:17661825 PMID:23028343 PMID:25741868 PMID:27013732 More... NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      eye disease 3723
        microphthalmia 229
          Microphthalmia, Cataracts, and Iris Abnormalities 2
Path 2
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          sensory system disease 7376
            eye disease 3723
              Eye Abnormalities 814
                coloboma 133
                  Microphthalmia, Cataracts, and Iris Abnormalities 2
paths to the root